Proximal 18q-

Proximal 18q-
Synonyms	18q deletion syndrome, 18q- syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, intellectual disability, hypotonia, hearing loss, growth deficiency
Complications	Seizures, behavioral problems, speech delay
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history of chromosomal abnormalities
Diagnosis	Karyotype, chromosomal microarray
Differential diagnosis	Down syndrome, Prader-Willi syndrome, Angelman syndrome
Prevention	N/A
Treatment	Supportive care, speech therapy, occupational therapy, physical therapy
Medication	N/A
Prognosis	Variable, depends on severity of symptoms
Frequency	Rare
Deaths	N/A

Proximal 18q- is a rare chromosomal disorder characterized by the deletion of the proximal segment of the long arm of chromosome 18. This condition is also known as 18q deletion syndrome.

Symptoms and Signs

The symptoms of Proximal 18q- vary widely among affected individuals. Common symptoms include intellectual disability, growth retardation, and distinctive facial features. Other symptoms may include hearing loss, heart defects, and abnormalities of the kidney and urinary system.

Causes

Proximal 18q- is caused by a deletion of genetic material from the long arm of chromosome 18. The size of the deletion varies among affected individuals. The deletion occurs as a random event during the formation of reproductive cells or in early embryonic development.

Diagnosis

Diagnosis of Proximal 18q- is typically made through genetic testing, which can identify the chromosomal deletion. This can be done through methods such as karyotyping or fluorescence in situ hybridization (FISH).

Treatment

There is currently no cure for Proximal 18q-. Treatment is symptomatic and supportive, and may include physical, occupational, and speech therapy, as well as educational services and social support.

Prognosis

The prognosis for individuals with Proximal 18q- varies depending on the size of the chromosomal deletion and the specific symptoms present. Some individuals may have mild symptoms and live a normal lifespan, while others may have severe symptoms and associated health problems.

See also

• Chromosome 18
• Chromosomal deletion
• Genetic disorder

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